Retinal Degeneration

1. Front Matter

   Pages i-xiv

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2. The Macula, Aging and Macular Degeneration

   1. Front Matter

      Pages 1-1

      PDF

   2. Lipofuscin in Aged and AMD Eyes

      • C. Kathleen Dorey, Giovanni Staurenghi, Francois C. Delori

      Pages 3-14

   3. Retinoid Reaction Products in Age Related Retinal Degeneration

      • Graig E. Eldred

      Pages 15-24

   4. How Many Cones are Required to “See?”: Lessons from Stargardt’s Macular Dystrophy and from Modeling with Degenerate Photoreceptor Arrays

      • Andrew M. Geller, Paul A. Sieving

      Pages 25-34

   5. The Genetics of Age-Related Maculopathy

      • Michael B. Gorin, Carmella Sarneso, T. Otis Paul, Julielani Ngo, Daniel E. Weeks

      Pages 35-47

   6. Linkage Analysis in Malattia Leventinese, an Autosomal Dominant form of Macular Degeneration

      • Manfred Stuhrmann, Astrid Spangenberg, Albert Schinzel, Jörg Schmidtke

      Pages 49-52

   7. Mutations in the Human Retinal Degeneration Slow (RDS) Gene Can Cause Either Retinitis Pigmentosa or Macular Dystrophy

      • John Wells, John Wroblewski, Jeffrey Keen, Christopher Inglehearn, Christopher Jubb, Anja Eckstein et al.

      Pages 53-59

3. Retinitis Pigmentosa and Allied Retinal Degenerations: Molecular, Cellular and Clinical Studies

   1. Front Matter

      Pages 61-61

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   2. Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa

      • G. Jane Farrar, Siobhán A. Jordan, Rajendra Kumar-Singh, Chris F. Inglehearn, Andreas Gal, Cheryl Greggory et al.

      Pages 63-77

   3. Genetic and Epidemiological Study of Autosomal Dominant (ADRP) and Autosomal Recessive (ARRP) Retinitis Pigmentosa in Sardinia

      • Maurizio Fossarello, Antonina Serra, David Mansfield, Alan Wright, Jorgos Loudianos, Mario Pirastu et al.

      Pages 79-90

   4. Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the GLY-188-ARG Mutation of the Rhodopsin Gene

      • Giuseppe Del Porto, Enzo M. Vingolo, Dezsö David, Katharina Steindl, Heike Wedemann, Renato Forte et al.

      Pages 91-101

   5. Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa Due to a 3-Base Pair Deletion at Codon 255/256 of the Human Rhodopsin Gene

      • Birgit Lorenz, Christine Hörmann, Monika Horn, Thomas Berninger, Monika Döring, Andreas Gal

      Pages 103-114

   6. Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa

      • Eckart Apfelstedt-Sylla, Susanna Bunge, Dezsö David, Klaus Rüther, Andreas Gal, Eberhart Zrenner

      Pages 115-125

   7. Heterogeneity of Usher Syndrome Type I

      • Radha Ayyagari, Richard J. H. Smith, Elizabeth C. Lee, William J. Kimberling, Marcelle Jay, Alan Bird et al.

      Pages 127-133

   8. The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies

      • Thomas Meitinger, Alfons Meindl, Wolfgang Berger, Hans-Hilger Ropers

      Pages 135-142

   9. Clinical and Genetic Heterogeneity of Leber’s Congenital Amaurosis

      • Hélène Dollfus, Jean-Michal Rozet, Oliver Delrieu, Alain Vignal, Imhad Ghazi, Jean-Louis Dufier et al.

      Pages 143-152

   10. Studies Toward the Isolation of the RP3 Gene

       • Anne-Françoise Roux, Johanna Rommens, Maria A. Musarella

       Pages 153-160

   11. Comments on Gene Symbols and Terminology

       • Stephen P. Daiger

       Pages 161-170

   12. Identification of Candidate Genes for Eye Diseases: Studies on a Neural Retina-Specific Gene Encoding a Putative Dna Binding Protein of Leucine Zipper Family

       • Anne U. Jackson, Keqin Zheng, Teresa L. Yang-Feng, Anand Swaroop

       Pages 171-180

During the last few years, an explosion of infonnation has come from human genetics and molecular and cell biological studies as to the genetic basis for a number of fonns of inherited retinal degenerations. These disorders have plagued mankind for millennia because they take from otherwise healthy individuals the precious gift of sight. The fundamental advances in recent years have identified a number of genes involved in the groups of diseases which hopefully will lead to discoveries that may, in the not too distant future, allow the prevention and possible cure of some of these blinding eye disorders. To foster a forum for discussions of studies on degenerative retinal disorders, we convened a symposium on retinal degenerations in 1984, at the VIth International Congress of Eye Research Meeting, held in Alicante, Spain. Because of the success of this meeting and the subsequent publication, we have since organized a series of biennial satellite meetings on retinal degenerations for the ISER congresses held in Nagoya, Japan (1986), San Francisco (1988) and Helsinki (1990). Each of these satellite symposium on retinal degenerations was accompanied by a published proceedings volume. This volume is the fifth in this series and contains the proceedings of the Sardinia Symposium on Retinal Degeneration held September 15-20, 1992, as a satellite meeting of the 10th International Congress of Eye Research.

• aging
• eye
• genes
• genetics
• growth
• macular degeneration
• metabolism
• mutation
• retina

• Cullen Eye Institute, Baylor College of Medicine, Houston, USA

  Joe G. Hollyfield, Robert E. Anderson

• Beckman Vision Center, University of California, San Francisco, San Francisco, USA

  Matthew M. LaVail

Policies and ethics